Incidental Mutation 'R1992:Cr2'
| ID |
223536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cr2
|
| Ensembl Gene |
ENSMUSG00000026616 |
| Gene Name |
complement receptor 2 |
| Synonyms |
C3DR, CD21, Cr-2, Cr1, Cr-1, CD35 |
| MMRRC Submission |
040003-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R1992 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
194819119-194859024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 194836458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 1278
(P1278S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082321]
[ENSMUST00000193356]
[ENSMUST00000193801]
[ENSMUST00000195120]
[ENSMUST00000210219]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082321
AA Change: P902S
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: P902S
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
23 |
82 |
1.01e-11 |
SMART |
|
CCP
|
91 |
147 |
9.1e-14 |
SMART |
|
CCP
|
155 |
211 |
1.9e-16 |
SMART |
|
CCP
|
216 |
272 |
1.6e-9 |
SMART |
|
CCP
|
277 |
343 |
1.01e-11 |
SMART |
|
CCP
|
352 |
407 |
1.2e-13 |
SMART |
|
CCP
|
411 |
467 |
2.34e-16 |
SMART |
|
CCP
|
472 |
523 |
1.24e0 |
SMART |
|
CCP
|
528 |
594 |
4.48e-13 |
SMART |
|
CCP
|
603 |
658 |
1.95e-13 |
SMART |
|
CCP
|
718 |
778 |
1.75e-15 |
SMART |
|
CCP
|
787 |
842 |
2.06e-12 |
SMART |
|
CCP
|
850 |
906 |
7.92e-14 |
SMART |
|
CCP
|
911 |
967 |
1.29e-13 |
SMART |
|
transmembrane domain
|
975 |
997 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192604
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193356
AA Change: P605S
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
AA Change: P605S
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
1 |
46 |
1.2e-1 |
SMART |
|
CCP
|
55 |
110 |
5.9e-16 |
SMART |
|
CCP
|
114 |
170 |
1.1e-18 |
SMART |
|
CCP
|
175 |
226 |
6.1e-3 |
SMART |
|
CCP
|
231 |
297 |
2.2e-15 |
SMART |
|
CCP
|
306 |
361 |
9.4e-16 |
SMART |
|
CCP
|
421 |
481 |
8.3e-18 |
SMART |
|
CCP
|
490 |
545 |
1e-14 |
SMART |
|
CCP
|
553 |
609 |
4e-16 |
SMART |
|
CCP
|
614 |
670 |
6.2e-16 |
SMART |
|
transmembrane domain
|
678 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193436
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193801
|
| SMART Domains |
Protein: ENSMUSP00000141276
Gene: ENSMUSG00000026616
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195120
AA Change: P902S
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: P902S
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
23 |
82 |
4.9e-14 |
SMART |
|
CCP
|
91 |
147 |
4.5e-16 |
SMART |
|
CCP
|
155 |
211 |
9.1e-19 |
SMART |
|
CCP
|
216 |
272 |
8e-12 |
SMART |
|
CCP
|
277 |
343 |
5e-14 |
SMART |
|
CCP
|
352 |
407 |
5.9e-16 |
SMART |
|
CCP
|
411 |
467 |
1.1e-18 |
SMART |
|
CCP
|
472 |
523 |
6.1e-3 |
SMART |
|
CCP
|
528 |
594 |
2.2e-15 |
SMART |
|
CCP
|
603 |
658 |
9.4e-16 |
SMART |
|
CCP
|
718 |
778 |
8.3e-18 |
SMART |
|
CCP
|
787 |
842 |
1e-14 |
SMART |
|
CCP
|
850 |
906 |
4e-16 |
SMART |
|
CCP
|
911 |
967 |
6.2e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195737
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210219
AA Change: P1278S
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1743 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired humoral immune responses to T cell-dependent antigens, with limited affinity maturation, and reduced memory B cell and germinal center formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 123 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
T |
C |
1: 138,781,380 (GRCm39) |
T90A |
probably damaging |
Het |
| A930011G23Rik |
T |
C |
5: 99,381,784 (GRCm39) |
D326G |
possibly damaging |
Het |
| Abcc2 |
A |
T |
19: 43,795,581 (GRCm39) |
I446F |
probably damaging |
Het |
| Adam34l |
T |
C |
8: 44,080,176 (GRCm39) |
K16R |
probably benign |
Het |
| Adamts14 |
A |
G |
10: 61,034,439 (GRCm39) |
Y1150H |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,522,880 (GRCm39) |
I217T |
possibly damaging |
Het |
| Afap1l1 |
A |
T |
18: 61,874,842 (GRCm39) |
Y446* |
probably null |
Het |
| Aimp2 |
G |
A |
5: 143,843,548 (GRCm39) |
A14V |
probably damaging |
Het |
| Akap8 |
G |
A |
17: 32,535,586 (GRCm39) |
H143Y |
probably damaging |
Het |
| Aldh2 |
A |
T |
5: 121,714,026 (GRCm39) |
V207E |
possibly damaging |
Het |
| Aoc1l2 |
T |
A |
6: 48,907,703 (GRCm39) |
H234Q |
probably damaging |
Het |
| Armc3 |
T |
C |
2: 19,297,953 (GRCm39) |
Y575H |
probably damaging |
Het |
| Arpp21 |
T |
C |
9: 111,986,861 (GRCm39) |
E230G |
probably damaging |
Het |
| Arrdc3 |
G |
A |
13: 81,031,808 (GRCm39) |
D14N |
probably damaging |
Het |
| Atn1 |
A |
G |
6: 124,722,291 (GRCm39) |
|
probably benign |
Het |
| Atxn7l1 |
G |
A |
12: 33,408,743 (GRCm39) |
D302N |
probably damaging |
Het |
| Bbs1 |
T |
A |
19: 4,941,736 (GRCm39) |
H518L |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,054,181 (GRCm39) |
H3100L |
probably benign |
Het |
| Bmpr1a |
C |
A |
14: 34,147,050 (GRCm39) |
G241C |
probably damaging |
Het |
| Cacna1b |
G |
A |
2: 24,622,318 (GRCm39) |
P222L |
probably damaging |
Het |
| Calcrl |
T |
C |
2: 84,200,855 (GRCm39) |
Y63C |
probably damaging |
Het |
| Cand2 |
A |
G |
6: 115,762,093 (GRCm39) |
H173R |
possibly damaging |
Het |
| Cap2 |
T |
A |
13: 46,791,357 (GRCm39) |
Y175N |
possibly damaging |
Het |
| Card14 |
A |
T |
11: 119,212,647 (GRCm39) |
|
probably null |
Het |
| Cd3d |
T |
A |
9: 44,896,299 (GRCm39) |
Y29* |
probably null |
Het |
| Cd4 |
A |
G |
6: 124,844,651 (GRCm39) |
V378A |
possibly damaging |
Het |
| Cluh |
A |
T |
11: 74,550,828 (GRCm39) |
H318L |
probably damaging |
Het |
| Clvs1 |
T |
A |
4: 9,281,899 (GRCm39) |
D114E |
probably benign |
Het |
| Cnot4 |
T |
A |
6: 35,000,344 (GRCm39) |
T548S |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,916,988 (GRCm39) |
I114V |
unknown |
Het |
| Crebbp |
A |
T |
16: 3,946,561 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
G |
1: 53,621,835 (GRCm39) |
K1097Q |
possibly damaging |
Het |
| Doc2a |
T |
A |
7: 126,450,979 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
A |
T |
1: 123,832,833 (GRCm39) |
V48E |
probably null |
Het |
| Dsg2 |
A |
G |
18: 20,734,530 (GRCm39) |
K836R |
probably damaging |
Het |
| Egr2 |
T |
C |
10: 67,375,857 (GRCm39) |
V164A |
probably damaging |
Het |
| Erbin |
A |
T |
13: 103,970,221 (GRCm39) |
S1132T |
probably benign |
Het |
| Espn |
T |
A |
4: 152,213,012 (GRCm39) |
|
probably null |
Het |
| Fam83b |
A |
G |
9: 76,399,304 (GRCm39) |
S600P |
probably benign |
Het |
| Fanca |
A |
T |
8: 124,024,551 (GRCm39) |
N425K |
possibly damaging |
Het |
| Flot2 |
C |
T |
11: 77,949,445 (GRCm39) |
L294F |
probably damaging |
Het |
| Frs2 |
A |
G |
10: 116,910,459 (GRCm39) |
V301A |
probably benign |
Het |
| Fv1 |
T |
A |
4: 147,953,618 (GRCm39) |
N61K |
possibly damaging |
Het |
| Fxr2 |
A |
G |
11: 69,540,659 (GRCm39) |
E339G |
possibly damaging |
Het |
| Gck |
T |
C |
11: 5,856,515 (GRCm39) |
Y214C |
probably damaging |
Het |
| Golga3 |
C |
G |
5: 110,340,839 (GRCm39) |
T551R |
probably damaging |
Het |
| Gorab |
A |
G |
1: 163,224,625 (GRCm39) |
S59P |
probably damaging |
Het |
| Gsdme |
C |
T |
6: 50,185,102 (GRCm39) |
V451M |
probably damaging |
Het |
| H2-T13 |
A |
C |
17: 36,391,938 (GRCm39) |
I216S |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,081,743 (GRCm39) |
V22E |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hoxa2 |
A |
T |
6: 52,141,576 (GRCm39) |
S17T |
probably damaging |
Het |
| Hs3st5 |
A |
G |
10: 36,708,882 (GRCm39) |
Y139C |
probably damaging |
Het |
| Ism1 |
G |
A |
2: 139,587,937 (GRCm39) |
V221I |
probably benign |
Het |
| Kalrn |
T |
G |
16: 33,796,108 (GRCm39) |
L1222F |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,261,631 (GRCm39) |
D602G |
possibly damaging |
Het |
| Ktn1 |
A |
G |
14: 47,932,978 (GRCm39) |
K711E |
probably damaging |
Het |
| Lce1k |
A |
T |
3: 92,714,125 (GRCm39) |
C20S |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,350,488 (GRCm39) |
S3792P |
probably damaging |
Het |
| Maml3 |
C |
T |
3: 51,598,178 (GRCm39) |
M189I |
probably benign |
Het |
| Mcc |
C |
A |
18: 44,624,382 (GRCm39) |
E213* |
probably null |
Het |
| Mep1a |
T |
G |
17: 43,813,573 (GRCm39) |
I13L |
probably benign |
Het |
| Mkrn2 |
G |
T |
6: 115,586,562 (GRCm39) |
C16F |
probably damaging |
Het |
| Mlh1 |
C |
T |
9: 111,057,631 (GRCm39) |
A727T |
probably damaging |
Het |
| Muc21 |
A |
T |
17: 35,929,600 (GRCm39) |
S1529T |
probably benign |
Het |
| Naa16 |
T |
C |
14: 79,593,931 (GRCm39) |
Y344C |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,457,321 (GRCm39) |
I80F |
probably damaging |
Het |
| Nlrc4 |
T |
A |
17: 74,752,628 (GRCm39) |
Y585F |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,587,753 (GRCm39) |
K149R |
probably damaging |
Het |
| Nufip1 |
T |
A |
14: 76,372,287 (GRCm39) |
I467N |
probably damaging |
Het |
| Nup133 |
A |
G |
8: 124,632,960 (GRCm39) |
I1057T |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,886,653 (GRCm39) |
|
probably benign |
Het |
| Or10ag52 |
T |
A |
2: 87,043,588 (GRCm39) |
C117* |
probably null |
Het |
| Or5k1 |
A |
G |
16: 58,617,309 (GRCm39) |
V300A |
probably benign |
Het |
| Or5k14 |
A |
C |
16: 58,692,874 (GRCm39) |
I213R |
probably benign |
Het |
| Pi4k2a |
A |
T |
19: 42,104,377 (GRCm39) |
I380F |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,207,733 (GRCm39) |
L1426Q |
probably null |
Het |
| Pik3cg |
A |
T |
12: 32,254,024 (GRCm39) |
D654E |
possibly damaging |
Het |
| Poli |
G |
T |
18: 70,642,058 (GRCm39) |
P714Q |
probably damaging |
Het |
| Polr3f |
A |
G |
2: 144,378,230 (GRCm39) |
N201D |
probably benign |
Het |
| Prorp |
A |
G |
12: 55,384,991 (GRCm39) |
D89G |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 22,959,747 (GRCm39) |
K81N |
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,271,948 (GRCm39) |
|
probably null |
Het |
| Sec24a |
C |
T |
11: 51,627,190 (GRCm39) |
V241I |
probably benign |
Het |
| Sgk3 |
A |
G |
1: 9,950,567 (GRCm39) |
T160A |
possibly damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,254,375 (GRCm39) |
I497T |
probably benign |
Het |
| Slc26a9 |
A |
T |
1: 131,690,532 (GRCm39) |
D512V |
probably damaging |
Het |
| Slc43a3 |
C |
T |
2: 84,788,084 (GRCm39) |
R489C |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,452,089 (GRCm39) |
F327L |
probably benign |
Het |
| Slitrk3 |
A |
G |
3: 72,957,104 (GRCm39) |
V556A |
possibly damaging |
Het |
| Spata6l |
A |
G |
19: 28,926,024 (GRCm39) |
F130L |
probably damaging |
Het |
| Spib |
T |
C |
7: 44,178,281 (GRCm39) |
E180G |
probably benign |
Het |
| Spint2 |
T |
A |
7: 28,958,833 (GRCm39) |
N128Y |
probably damaging |
Het |
| Spx |
G |
A |
6: 142,364,245 (GRCm39) |
G102E |
probably benign |
Het |
| Spz1 |
T |
A |
13: 92,712,166 (GRCm39) |
E103D |
possibly damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,495 (GRCm39) |
I138T |
probably benign |
Het |
| Sytl3 |
T |
A |
17: 7,000,448 (GRCm39) |
I206N |
possibly damaging |
Het |
| Tcaf2 |
T |
C |
6: 42,606,791 (GRCm39) |
T388A |
probably benign |
Het |
| Tdpoz8 |
G |
T |
3: 92,981,344 (GRCm39) |
A121S |
probably benign |
Het |
| Thap12 |
T |
C |
7: 98,365,572 (GRCm39) |
V580A |
possibly damaging |
Het |
| Tlr5 |
T |
A |
1: 182,801,912 (GRCm39) |
D405E |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,890,878 (GRCm39) |
V407A |
probably damaging |
Het |
| Tpx2 |
T |
A |
2: 152,732,544 (GRCm39) |
M606K |
probably benign |
Het |
| Trim43a |
T |
G |
9: 88,466,312 (GRCm39) |
L211R |
probably damaging |
Het |
| Trim46 |
A |
T |
3: 89,145,008 (GRCm39) |
Y489N |
probably damaging |
Het |
| Ttc28 |
C |
T |
5: 111,424,188 (GRCm39) |
S1485L |
probably benign |
Het |
| Ttll8 |
T |
C |
15: 88,798,654 (GRCm39) |
T694A |
probably benign |
Het |
| Txnl1 |
T |
C |
18: 63,812,585 (GRCm39) |
T70A |
probably benign |
Het |
| Ube3a |
C |
T |
7: 58,953,535 (GRCm39) |
A823V |
probably damaging |
Het |
| Ubqln5 |
C |
A |
7: 103,778,741 (GRCm39) |
V28F |
probably damaging |
Het |
| Ulk1 |
T |
A |
5: 110,935,017 (GRCm39) |
Q972L |
probably damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,994,062 (GRCm39) |
Y398H |
probably benign |
Het |
| Usp1 |
A |
G |
4: 98,822,531 (GRCm39) |
D615G |
probably benign |
Het |
| Utp15 |
A |
G |
13: 98,387,420 (GRCm39) |
C385R |
probably benign |
Het |
| Vmn2r91 |
T |
A |
17: 18,356,142 (GRCm39) |
V603D |
probably damaging |
Het |
| Whamm |
C |
T |
7: 81,241,519 (GRCm39) |
R277* |
probably null |
Het |
| Wnt8a |
A |
G |
18: 34,677,937 (GRCm39) |
D115G |
probably damaging |
Het |
| Yjefn3 |
A |
T |
8: 70,341,645 (GRCm39) |
|
probably null |
Het |
| Ywhab |
A |
T |
2: 163,853,807 (GRCm39) |
I95F |
probably damaging |
Het |
| Zfp143 |
C |
T |
7: 109,660,489 (GRCm39) |
|
probably benign |
Het |
| Zfp607b |
C |
G |
7: 27,401,949 (GRCm39) |
T135R |
possibly damaging |
Het |
| Zfp970 |
A |
G |
2: 177,166,663 (GRCm39) |
Q79R |
possibly damaging |
Het |
|
| Other mutations in Cr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Cr2
|
APN |
1 |
194,836,559 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01326:Cr2
|
APN |
1 |
194,823,529 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL01358:Cr2
|
APN |
1 |
194,842,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01410:Cr2
|
APN |
1 |
194,845,542 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01468:Cr2
|
APN |
1 |
194,850,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Cr2
|
APN |
1 |
194,837,528 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01810:Cr2
|
APN |
1 |
194,841,903 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01843:Cr2
|
APN |
1 |
194,833,222 (GRCm39) |
splice site |
probably benign |
|
|
IGL02332:Cr2
|
APN |
1 |
194,842,630 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02934:Cr2
|
APN |
1 |
194,836,633 (GRCm39) |
splice site |
probably benign |
|
|
IGL02938:Cr2
|
APN |
1 |
194,848,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Cr2
|
APN |
1 |
194,848,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03327:Cr2
|
APN |
1 |
194,852,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03346:Cr2
|
APN |
1 |
194,852,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Pillar
|
UTSW |
1 |
194,838,196 (GRCm39) |
nonsense |
probably null |
|
|
PIT4354001:Cr2
|
UTSW |
1 |
194,848,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Cr2
|
UTSW |
1 |
194,839,760 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0128:Cr2
|
UTSW |
1 |
194,848,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0130:Cr2
|
UTSW |
1 |
194,848,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0380:Cr2
|
UTSW |
1 |
194,839,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Cr2
|
UTSW |
1 |
194,842,667 (GRCm39) |
splice site |
probably benign |
|
|
R0605:Cr2
|
UTSW |
1 |
194,845,904 (GRCm39) |
splice site |
probably benign |
|
|
R0626:Cr2
|
UTSW |
1 |
194,853,419 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1135:Cr2
|
UTSW |
1 |
194,839,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1396:Cr2
|
UTSW |
1 |
194,851,561 (GRCm39) |
splice site |
probably null |
|
|
R1422:Cr2
|
UTSW |
1 |
194,853,433 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1467:Cr2
|
UTSW |
1 |
194,839,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Cr2
|
UTSW |
1 |
194,839,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Cr2
|
UTSW |
1 |
194,837,580 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1572:Cr2
|
UTSW |
1 |
194,845,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1714:Cr2
|
UTSW |
1 |
194,833,994 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1748:Cr2
|
UTSW |
1 |
194,838,213 (GRCm39) |
nonsense |
probably null |
|
|
R1761:Cr2
|
UTSW |
1 |
194,837,431 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1824:Cr2
|
UTSW |
1 |
194,839,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Cr2
|
UTSW |
1 |
194,837,495 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1990:Cr2
|
UTSW |
1 |
194,836,458 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1991:Cr2
|
UTSW |
1 |
194,836,458 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2191:Cr2
|
UTSW |
1 |
194,845,689 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2276:Cr2
|
UTSW |
1 |
194,839,676 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2277:Cr2
|
UTSW |
1 |
194,839,676 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3548:Cr2
|
UTSW |
1 |
194,838,196 (GRCm39) |
nonsense |
probably null |
|
|
R3743:Cr2
|
UTSW |
1 |
194,832,274 (GRCm39) |
splice site |
probably benign |
|
|
R3941:Cr2
|
UTSW |
1 |
194,848,122 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3963:Cr2
|
UTSW |
1 |
194,842,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4211:Cr2
|
UTSW |
1 |
194,838,636 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4484:Cr2
|
UTSW |
1 |
194,836,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4546:Cr2
|
UTSW |
1 |
194,853,349 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4791:Cr2
|
UTSW |
1 |
194,838,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Cr2
|
UTSW |
1 |
194,845,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Cr2
|
UTSW |
1 |
194,845,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4874:Cr2
|
UTSW |
1 |
194,858,878 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4885:Cr2
|
UTSW |
1 |
194,841,039 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4889:Cr2
|
UTSW |
1 |
194,858,893 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5154:Cr2
|
UTSW |
1 |
194,841,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5574:Cr2
|
UTSW |
1 |
194,823,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Cr2
|
UTSW |
1 |
194,839,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5645:Cr2
|
UTSW |
1 |
194,836,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5700:Cr2
|
UTSW |
1 |
194,842,065 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5929:Cr2
|
UTSW |
1 |
194,853,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6237:Cr2
|
UTSW |
1 |
194,839,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6299:Cr2
|
UTSW |
1 |
194,850,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6368:Cr2
|
UTSW |
1 |
194,850,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6406:Cr2
|
UTSW |
1 |
194,852,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6618:Cr2
|
UTSW |
1 |
194,839,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6684:Cr2
|
UTSW |
1 |
194,853,329 (GRCm39) |
nonsense |
probably null |
|
|
R6720:Cr2
|
UTSW |
1 |
194,837,508 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6866:Cr2
|
UTSW |
1 |
194,833,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6915:Cr2
|
UTSW |
1 |
194,853,454 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7057:Cr2
|
UTSW |
1 |
194,833,918 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7117:Cr2
|
UTSW |
1 |
194,842,909 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7200:Cr2
|
UTSW |
1 |
194,845,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7209:Cr2
|
UTSW |
1 |
194,851,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Cr2
|
UTSW |
1 |
194,837,594 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7414:Cr2
|
UTSW |
1 |
194,832,344 (GRCm39) |
missense |
probably benign |
|
|
R7453:Cr2
|
UTSW |
1 |
194,847,565 (GRCm39) |
splice site |
probably null |
|
|
R7479:Cr2
|
UTSW |
1 |
194,840,718 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7480:Cr2
|
UTSW |
1 |
194,836,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7570:Cr2
|
UTSW |
1 |
194,851,648 (GRCm39) |
nonsense |
probably null |
|
|
R7666:Cr2
|
UTSW |
1 |
194,836,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7921:Cr2
|
UTSW |
1 |
194,833,975 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7923:Cr2
|
UTSW |
1 |
194,850,995 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8396:Cr2
|
UTSW |
1 |
194,840,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8503:Cr2
|
UTSW |
1 |
194,845,850 (GRCm39) |
missense |
probably benign |
|
|
R8517:Cr2
|
UTSW |
1 |
194,838,207 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8773:Cr2
|
UTSW |
1 |
194,840,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8849:Cr2
|
UTSW |
1 |
194,839,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Cr2
|
UTSW |
1 |
194,851,581 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8938:Cr2
|
UTSW |
1 |
194,853,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9027:Cr2
|
UTSW |
1 |
194,834,029 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9045:Cr2
|
UTSW |
1 |
194,837,680 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9116:Cr2
|
UTSW |
1 |
194,840,977 (GRCm39) |
nonsense |
probably null |
|
|
R9137:Cr2
|
UTSW |
1 |
194,850,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9476:Cr2
|
UTSW |
1 |
194,840,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9497:Cr2
|
UTSW |
1 |
194,850,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9510:Cr2
|
UTSW |
1 |
194,840,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9752:Cr2
|
UTSW |
1 |
194,823,575 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9799:Cr2
|
UTSW |
1 |
194,842,988 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0028:Cr2
|
UTSW |
1 |
194,832,290 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0066:Cr2
|
UTSW |
1 |
194,848,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Cr2
|
UTSW |
1 |
194,836,461 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGATGTTTGTCAAATGCACTC -3'
(R):5'- CAAGCTTCTTTAGGGTGTCAGTCTC -3'
Sequencing Primer
(F):5'- ACAATAGGGTCACTATAGCAA -3'
(R):5'- AGGGTGTCAGTCTCCATCCAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation